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1دورية أكاديمية
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 4, p 91 (2020)
مصطلحات موضوعية: lysosomal storage disease, mucopolysaccharidoses, glycosaminoglycans, pseudodeficiency, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Richard S. Ziegler, Amy Esler, Cara O'Neill, Chimei Lee, Kelly King, Jonathan Morton, Julie B. Eisengart, N. Mathew Ellinwood, Rebekah L. Hudock, Kim Stephens, Terri L. Klein
المصدر: Molecular Genetics and Metabolism
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Distance education, Patient Advocacy, Biochemistry, Education, Education, Distance, Endocrinology, Quality of life (healthcare), Pandemic, Genetics, medicine, Humans, Child, Psychiatry, Pandemics, Molecular Biology, Earnings, COVID-19, Mucopolysaccharidoses, Telemedicine, Educational attainment, Mucopolysaccharidosis, IEP, Quality of Life, Commentary, Life expectancy, Virtual learning environment, Therapy, Psychology, Neurocognitive, Supportive care
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المصدر: International Journal of Neonatal Screening, Vol 6, Iss 91, p 91 (2020)
International Journal of Neonatal Screeningمصطلحات موضوعية: medicine.medical_specialty, Newborn screening, business.industry, education, lcsh:RJ1-570, Obstetrics and Gynecology, lcsh:Pediatrics, medicine.disease, Predictive value, mucopolysaccharidoses, GeneralLiterature_MISCELLANEOUS, Immunology and Microbiology (miscellaneous), lysosomal storage disease, glycosaminoglycans, pseudodeficiency, Pediatrics, Perinatology and Child Health, Mucopolysaccharidosis I, Pseudodeficiency alleles, medicine, Lysosomal storage disease, Commentary, Biomarker (medicine), Intensive care medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79613d65e9b754b3dbde6b460b53f47b
https://www.mdpi.com/2409-515X/6/4/91 -
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المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 6, Iss 69, p 69 (2020)
Volume 6
Issue 3مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Mucopolysaccharidosis, Disaccharide, Reference range, 030105 genetics & heredity, Article, scheie syndrome, Glycosaminoglycan, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Mucopolysaccharidosis I, Medicine, Hurler syndrome, skin and connective tissue diseases, mass spectrometry, Newborn screening, business.industry, newborn screening, lcsh:RJ1-570, Obstetrics and Gynecology, nutritional and metabolic diseases, food and beverages, hurler syndrome, lcsh:Pediatrics, mucopolysaccharidosis, medicine.disease, Molecular biology, chemistry, glycosaminoglycans, Pediatrics, Perinatology and Child Health, embryonic structures, biochemical genetics, business, Scheie syndrome, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Heather Flanagan-Steet, N. Matthew Ellinwood, Jennifer J. Klein, Alessandra d'Azzo, Sara S. Cathey, Thomas Braulke, Jenny Noble, Joshua A. Stern, Terri L. Klein, Allison M. Bradbury, Richard Steet
المصدر: Molecular Genetics and Metabolism. 132:S58
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, Mucolipidosis, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry